Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8 		0.310 Biomarker group CTD_human Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. 18060736 2008
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.300 Biomarker group CTD_human A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		0.300 Biomarker group CTD_human A dopamine receptor (DRD2) but not dopamine transporter (DAT1) gene polymorphism is associated with neurocognitive development of Mexican preschool children with lead exposure. 21592505 2011
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker group CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.300 Biomarker group CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 55738
Gene Symbol: ARFGAP1
ARFGAP1 		0.300 Biomarker group CTD_human A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. 20805988 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.380 Biomarker group CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker group CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.410 Biomarker group CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504 2009
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker group CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.300 Biomarker group CTD_human De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.300 Biomarker group CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 152330
Gene Symbol: CNTN4
CNTN4 		0.300 Biomarker group CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		0.300 Biomarker group CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker group CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.320 Biomarker group CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker group CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker group CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		0.300 Biomarker group CTD_human Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.300 Biomarker group CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.300 Biomarker group CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP 		0.300 Biomarker group CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker group CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 54187
Gene Symbol: NANS
NANS 		0.300 Biomarker group CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016